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Article

Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.

European journal of medical genetics - 1 Jan 2000

Hannes Femke, Drozniewska Malgorzata, Vermeesch Joris R, Haus Olga

Abstract excerpt

Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p and is clinically well defined. Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder. Submicroscopic duplications of this region, however, are not known. Here we report a patient with an interstitial 560 kb duplication overlapping this critical locus. The...

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Source

Identifiers

PMID: 20197130
DOI: 10.1016/j.ejmg.2010.02.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.PMID 20197130Read ↗

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